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Solute carrier family 12

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: KCC4, ACID, HAD, Rdl, V1a
Papers on KCC3
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Orlacchio et al., Roma, Italy. In Brain, 10 Dec 2015
Besides, we screened for all the known mutations related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
K-Cl cotransporters, cell volume homeostasis, and neurological disease.
Delpire et al., Boston, United States. In Trends Mol Med, Aug 2015
Genetic models of certain KCCs, such as KCC3, and their inhibitory WNK-STE20/SPS1-related proline/alanine-rich kinase (SPAK) serine-threonine kinases, have demonstrated the evolutionary necessity of these molecules for nervous system cell volume regulation, structure, and function, and their involvement in neurological disease.
Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis.
Kahle et al., Dayton, United States. In Front Cell Neurosci, Dec 2014
Cell swelling triggers a coordinated homeostatic response termed regulatory volume decrease (RVD), resulting in K(+) and Cl(-) efflux via activation of K(+) channels, volume-regulated anion channels (VRACs), and the K(+)-Cl(-) cotransporters, including KCC3.
Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.
Delpire et al., Nashville, United States. In Behav Brain Res, Dec 2014
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC or ACCPN) is an autosomal recessive disease caused by the disruption of the SLC12A6 gene, which encodes the K-Cl cotransporter-3 (KCC3).
SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
Chou et al., Tainan City, Taiwan. In Febs J, May 2014
Ste20-related proline/alanine-rich kinase (SPAK) plays a role in regulating many biological activities, and interacts with K-Cl co-transporter 3 (KCC3); however, the importance of SPAK for KCC3 function has not been demonstrated.
The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.
Zhang et al., Dundee, United Kingdom. In Biochem J, Apr 2014
Secondly, STOCK1S-50699, a WNK pathway inhibitor, suppresses SPAK/OSR1 activation and KCC3A Site-2 phosphorylation with similar efficiency.
[Pathophysiological aspects of K+: Cl- cotransporters].
Melo et al., Nueva San Salvador, El Salvador. In Rev Invest Clin, Mar 2014
KCCs belong to the SLC12 (Solute Carrier Family 12) family of electroneutral cation-chloride cotransporters (CCC), and they are secondary active ion transporters because use the established gradients from the primary active transporter through the Na+/K+- ATPase.
The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.
Otsuji et al., Kyoto, Japan. In Biomed Res Int, 2013
The objectives of the present study were to investigate the role of K-Cl cotransporter 3 (KCC3) in the regulation of cellular invasion and the clinicopathological significance of its expression in esophageal squamous cell carcinoma (ESCC).
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Caglayan et al., Ankara, Turkey. In Genet Couns, 2012
Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN).
Role of cholesterol in functional association between K(+)-Cl(-) cotransporter-3a and Na+,K(+)-ATPase.
Sakai et al., Toyama, Japan. In Biochem Biophys Res Commun, 2012
these results suggest that cholesterol is essential for eliciting up-regulation of Na(+),K(+)-ATPase activity by KCC3a in the KCC3a-alpha1NaK complex.
KCC3-dependent chloride extrusion in adult sensory neurons.
Scamps et al., Montpellier, France. In Mol Cell Neurosci, 2012
KCC3 contributes to Cl(-) extrusion in adult sensory neurons
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
Rouleau et al., Montréal, Canada. In J Neurosci, 2012
Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit, while the auditory impairment is due to loss of non-neuronal KCC3 expression.
High-grade glioma motility reduced by genetic knockdown of KCC3.
Gagnon, Nashville, United States. In Cell Physiol Biochem, 2011
Genetic silencing of KCC3 with short hairpin interfering RNA reduced protein expression by 40 - 60%, K(+) influx by ~50%, and cell motility by ~50%.
K-Cl cotransporter gene expression during human and murine erythroid differentiation.
Joiner et al., Cincinnati, United States. In J Biol Chem, 2011
KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma.
Morgan et al., London, United Kingdom. In J Clin Oncol, 2011
RESULTS: We report TrPN associations with SNPs-ABCA1 (rs363717), ICAM1 (rs1799969), PPARD (rs2076169), SERPINB2 (rs6103), and SLC12A6 (rs7164902)-where we show cross validation of the associations in both trials.
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou, United States. In Pflugers Arch, 2010
These include the chloride channel 2 (CLCN2) and the potassium chloride cotransporter KCC3.
Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Lifton et al., New Haven, United States. In Cell, 2009
Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity.
Roles of the cation-chloride cotransporters in neurological disease.
Mount et al., Boston, United States. In Nat Clin Pract Neurol, 2008
These transporters include the Na-K-2Cl cotransporter NKCC1, which mediates chloride influx, and various K-Cl cotransporters--such as KCC2 and KCC3-that extrude chloride.
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Rouleau et al., Seattle, United States. In Unknown Journal, 2006
SLC12A6 is the only gene in which mutation is currently known to cause HMSN/ACC.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Rouleau et al., Montréal, Canada. In Nat Genet, 2002
SLC12A6 has a role in the development and maintenance of the nervous system
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